@金沙官网注册网址Article {10.7554 / Elife.71473,Starty_type = {jourcoun},标题= {缺失\纺织损失时损失锥体功能并导致斑马鱼视网膜}的低压血脂沉积物和感光体退化,作者= {Schlegel,Domino K和Ramkumar,Srinivasagan和Von Lintig,Johannes和Neuhauss,Stephans CF},编辑= {Larhammar,Dan和Stailier,Didier Yr和Abalo,Xesus和Moiseyev,Gennadiy},体积= 10,年= 2021,月份= {OCT},PUB_DATE = {2021-10-20},第= {E71473},引文= {ELIFE 2021; 10:E71473},DOI = {10.7554 / ELIFE.71473},URL = {https:// doi.org / 10.7554 / Elife.71473},摘要= {\ textit {rlbp1}基因编码36kda细胞丁基脂结合蛋白,CrALBP,可溶性类含油类载体,在眼睛的视觉周期中。\ Texit {RLBP1}中的突变与隐性遗传性临床表型相关联,包括Bothnia营养不良,视网膜炎,视网膜炎,视网膜炎,眼罩紫杉灰和纽芬兰棒锥营养不良。然而,这些视网膜障碍的病因尚不清楚。在这里,我们生成了同源斑马鱼模型来弥合了这种知识差距。在Müller胶质细胞中,Zebrafish和细胞特异性表达的Zebrafish {RLBP1}基因的重复和细胞\ Texit {RLBP1A}在MüllerGlial细胞中的\ Texit {RLBP1B}的特异性表达允许我们创建内在的细胞类型特异性敲除鱼线条。使用\ Texit {RLBP1A}和\ Textit {RLBP1B}单和双突变体,我们调查了对视觉功能的病理影响。我们的分析揭示了\ Texit {RLBP1A}对于锥形光感受器功能和鱼眼中的发色团代谢至关重要。 \textit{rlbp1a-}mutant fish displayed reduced chromophore levels and attenuated cone photoreceptor responses to light stimuli. They accumulated 11-\textit{cis} and all-\textit{trans}-retinyl esters which displayed as enlarged lipid droplets in the RPE reminiscent of the subretinal yellow-white lesions in patients with \textit{RLBP1} mutations. During aging, these fish developed retinal thinning and cone and rod photoreceptor dystrophy. In contrast, \textit{rlbp1b} mutants did not display impaired vision. The double mutant essentially replicated the phenotype of the \textit{rlbp1a} single mutant. Together, our study showed that the \textit{rlbp1a} zebrafish mutant recapitulated many features of human blinding diseases caused by \textit{RLBP1} mutations and provided novel insights into the pathways for chromophore regeneration of cone photoreceptors.}, keywords = {visual cycle, retinoid, CRALBP, retinal degeneration}, journal = {eLife}, issn = {2050-084X}, publisher = {eLife Sciences Publications, Ltd}, }